Wednesday, December 20, 2017

Almost $10,000 Raised

December 20, 2017

A huge thank you to everyone for your thoughtfulness and generosity during this holiday season!

Because of you, we have raised nearly $10,000 to support Dr. Swanson’s research. We are hoping to make our goal of $25,000 by the end of the year. Donations are 100% tax deductible, and the gifts go directly to Dr. Swanson’s research to discover how Katie's genetic alteration causes nervous systems to develop in slightly different patterns. He will tackle this difficult challenge in part supported by your generous donations.

This research has the potential to shed light on this rare gene mutation not only for Katie, but for others as well. Thank you again!

Tuesday, December 12, 2017

Great news! We have mice! It took over a year but Dr. Swanson was able to produce a mouse with Katie's same mutation and then breed it, so now he has lots of Katie mice. One of the first tests they conducted was to have a normal (wildtype) mouse and a Katie mouse walk along the edge of a cage. He explains below about the struggles the mutated mouse has which just blows me away! I can't get over that these mice are actually showing a symptom in movement like Kate has. So incredible! See pictures below. Also, if you haven't seen my 2 minute video here it is: http://bit.ly/2C78BsPFrom Dr. Swanson:

"Figuring out the cellular and circuit rearrangements that result from rare genetic variants like Katie's is challenging and requires the use of model systems like mice. Mice are by far the most common animal model for human genetic disorders in part because their genome can be modified reliably with powerful editing technology. We introduced into mice the same nucleotide variant that Katie has in her GRIK2 gene. We call the this new strain "GluK2(A657T)" mice. The A and T simply refers to the change in amino acid structure (A/alanine to T/threonine) of the GluK2 protein that results from the GRIK2​ genetic variation. We expect the amino acid change to fundamentally alter the signaling of kainate receptors that contain the GluK2 protein, which are important for early development of the central nervous system.

What were we hoping to see in the GluK2(A657T) mice? Most importantly, we were hoping that the mice would show some of the same behaviors that Katie exhibits. If this occurs, then we say the mouse strain has "face validity" - that is, it actually does model some aspects of the human disorder. We always have to keep in mind that mice are not humans, and mouse brains are not nearly as complex and powerful as human brains. Not all mouse models show face validity for their associated human disorders. Thankfully, many mouse models do recapitulate features of human genetic disorders, which is what in part makes them powerful research tools. We can use behavioral tests to guide us to the parts of the brain that can be most effectively analyzed for changes in nervous system development.

The first set of data we have obtained from the GluK2(A657T) mice suggest that they do indeed have face validity for at least one aspect of Katie's genetic disorder. These pictures show that the GluK2(A657T) mice have a difficult time performing a routine task - walking along the edge of their cage. Walking on the "ledge" requires balance, muscle strength, and control of fine and coarse muscles. The fact that the GluK2(A657T) mice perform poorly on this simple task suggests that they have a motor disorder known as "ataxia" - like Katie.

We are just at the beginning of this analysis but are very encouraged by these data. Our hope and expectation is that the GluK2(A657T) mice will lead us to new insights into the neurodevelopmental basis of Katie's disorder as well as in other children with similar genetic disruptions."

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Katie's Story!

Read our story on the ViaCord website - click on the picture above

welcome to my blog!

Our daughter Katie, underwent a cord blood transfusion at Duke Medical Center in early January 2010. It was her own (umbilical) cord blood which we had saved at birth through a company called ViaCord. Not really thinking we would ever have a need for it, we were absolutely THRILLED at the thought that her own cord blood might be able to change her life, and help her to progress faster.

We are very hopeful that this procedure will help Katie to progress faster in overcoming her many physical delays. Mentally she seems to be fine, able to understand, and tries to communicate, but her physical delays hold her back.

What is expected is that the stem cells in the cord blood will repair or replace any damaged cells, or form new connections anywhere in her body that needs it. We were told not to expect much for at least 6 months - that most parents report a jumpstart in therapies at about that time. However, there are those families I have seen on youtube or the news who have incredible results - some even right away, and I can only be hopeful that we will have a similar experience. After all, I am her mom!

I believe that with the help of Katie's therapists, caregivers, and family, that I will be able to objectively sort out any milestones or changes that may be due to the stem cell transfusion, and that is what this blog is all about!

04/20/16 Katie has been diagnosed with a very rare gene mutation on the gene GRIK2. TGen is who found this gene mutation and put us in touch with a scientist at Northwestern University who is doing further research on Katie, specifically. So awesome!

about Katie

Katie was diagnosed with hypotonia at age 1, which is basically weak muscles, not really a true "diagnosis". We have no idea why she has this, but it delays her in many areas such as crawling, sitting, walking, talking, and fine motor skills. Katie is now 10 years old and she started walking about 4 years ago but still unsteady. Her coordination and balance are something we are constantly working on.
She did wear glasses from ages 2-4 and then her vision improved and she doesn't need them anymore, which is so great! Getting glasses on her was not easy - had to come from behind and put them over her head that way. It's nice not to have to worry about getting the glasses on her any more!
Katie can totally understand what you say, nods her head for "yes", has a few signs (for "more" and "me") but still is not able to talk much at all. Maybe a few words.
Katie is a work in progress!